Detection of Human Oocytes Aneuploidy with First Polar Bodies Using Fluorescent In Situ Hybridization

以螢光原位對交法分析第一極體藉以偵測人類卵子的染色體數目

吳成玄(Chen-Hsuan Wu) ； 王寶田(Bao-Tyan Wang) ； 郭宗正(Tsung-Cheng Kuo) ； 葉光芃(Guang-Peng Yeh) ； 林國城(Kuo-Cherng Lin)

《The Changhua Journal of Medicine》 8卷4期 (2003/10) Pp. 205-210

摘要

背景及目的：評估以「螢光染色體原位對交法」檢查第一極體，用來偵測人類卵子染色數目異常的可行性，以作為胚胎著床前診斷染色體數目異常的方法。
方法：試管嬰兒術後未受精的卵子，取其第一極體，兩者同時以標示螢光的DNA探子，來分析X性染色體與第18對染色體的數目。
結果：共有86個未受精卵子採取第一極體，其中有71(83%)個完整並成功固定的第一極體可進行「螢光染色體原位對交法」，65(91.5%)個第一極體有清楚的染色體訊號可供分析，正常的卵子與第一極體可看到成對的X性染色體與第18對染色體的訊號。有3個卵子發現染色體不分離現象，當卵子有多餘或遺失的染色體訊號時，可在其相對應的第一極體找到遺失或多餘的染色體訊號。
結論：本研究顯示以「螢光染色體原位對交法」檢查第一極體，可以相對的偵測人類卵子染色體數目是否正常，此方法可能作為將來胚胎著床前診斷染色體數目異常的方法之一。

關鍵字

第一極體 ； 人類卵子染色體數目異常 ； 胚胎著床前診斷

並列摘要

Background and purpose: The purpose of this study was to investigate the reliability of fluorescent in situ hybridization (FISH) to examine the first polar body (IPB) for chromosomal aneuploidies in human oocytes, as a method of choice in preimplantation genetic diagnosis.
Methods: Unfertilized human oocytes and their extruded IPB were analyzed using directly labeled fluorescence alpha-satellite DNA probes specific for the X chromosome 18. Polar body biopsies were performed on 86 unfertilized oocytes.
Results: Seventy-one (83%) of the polar bodies of 86 unfertilized oocytes were fixed and analysed using FISH. In 65 cases (91.5%) of the 71 biopsies, it was possible to analyze the polar bodies and their corresponding oocytes with clear fluorescent signals. Paired signals for the X chromosome and chromosome 18 were observed in normal oocytes and their extruded IPB.Three nondisjunction events were detected, with corresponding signals in the oocyte and their IPB. Missing signals in the oocyte corresponded to extra signals in their IPB, while extra signals in the oocyte corresponded to missing signals in IPB.
Conclusion: Our data suggest the possibility of detecting chromosomal aneuploidies in oocytes through cytogenetic analysis of their corresponding IPB using FISH as a possible approach for preimplantation diagnosis of major chromosomal trisomies.

並列關鍵字

first polar body ； human oocyte aneuploidy ； preimplantation diagnosis